KEGG   DISEASE: Peters anomaly
Entry
H01075                      Disease                                

Name
Peters anomaly
  Subgroup
Peters anomaly-cataract syndrome
Peters plus syndrome
  Supergrp
Anterior segment dysgenesis [DS:H01159]
Description
Peters anomaly is a subtype of Peters anomaly. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemets membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H01075  Peters anomaly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA11  Structural developmental anomalies of the anterior segment of eye
     H01075  Peters anomaly
Gene
B3GALTL [HSA:145173] [KO:K13675]
Other DBs
ICD-11: LA11.Y
ICD-10: Q13.4
MeSH: C537884
OMIM: 261540
Reference
  Authors
Girgis N, Chen TC
  Title
Genetics of the pediatric glaucomas.
  Journal
Int Ophthalmol Clin 51:107-17 (2011)
DOI:10.1097/IIO.0b013e31821e538b
Reference
  Authors
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
  Title
Chromosome abnormalities and the genetics of congenital corneal opacification.
  Journal
Mol Vis 17:1624-40 (2011)
Reference
  Authors
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR
  Title
Peters anomaly: review of the literature.
  Journal
Cornea 30:939-44 (2011)
DOI:10.1097/ICO.0b013e31820156a9
Reference
  Authors
Gould DB, John SW
  Title
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
  Journal
Hum Mol Genet 11:1185-93 (2002)
DOI:10.1093/hmg/11.10.1185
Reference
  Authors
Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA
  Title
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
  Journal
Nat Commun 7:10953 (2016)
DOI:10.1038/ncomms10953
Reference
  Authors
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N
  Title
Novel B3GALTL mutation in Peters-plus Syndrome.
  Journal
Clin Genet 76:490-2 (2009)
DOI:10.1111/j.1399-0004.2009.01253.x

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